Suchergebnisse - "Humans"

PubPharm (1.709)

1

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome : Case Report

enthalten in: International journal of molecular sciences | 2024

von Badeńska, M. | Pac, M. | Badeński, A. | +5

2

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case

enthalten in: Acta neuropathologica communications | 2024

von D'Incal, C. | Van Dijck, A. | Ibrahim, J. | +12

3

Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function

enthalten in: Ophthalmic genetics | 2024

von Farag, S. | Yusuf, I. | Kaukonen, M. | +3

4

Reticular Myxoid Odontogenic Neoplasm with Novel STRN::ALK Fusion : Report of 2 Cases in 3-Year-Old Males

enthalten in: Head and neck pathology | 2024

von Rosebush, M. | Smith, M. | Cordell, K. | +4

5

Life-threatening pulmonary haemorrhage treated with coil embolisation followed by lobectomy in a patient with KCNT1 mutation

enthalten in: Cardiology in the young | 2024

von Chauhan, D. | Verhoeven, P. | Kohli, U. | +2

6

Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients

enthalten in: Molecular genetics and genomics : MGG | 2024

von Yang, M. | Peng, L. | Lv, L. | +4

7

Ovarian mass Presenting as Paraneoplastic cerebellar degeneration with peripheral neuropathy and anti-Yo antibody

enthalten in: BMJ case reports | 2024

von Sahoo, D. | Dey, A. | Dash, A. | +1

8

Clinical phenotype and genetic characteristics of SZT2 related diseases : A case report and literature review

enthalten in: Seizure | 2024

von Zhang, X. | Han, Y. | Yang, L. | +6

9

22q13.33 duplication involving SHANK3 gene : a boy and his mother with "persistent" language and speech sound disorder

enthalten in: Psychiatric genetics | 2024

von Granocchio, E. | Pollina, E. | De Salvatore, M. | +5

10

MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy

enthalten in: Epileptic disorders : international epilepsy journal with videotape | 2023

von Boeri, S. | Scala, M. | Madia, F. | +6

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